| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.1345G>A | p.Val449Ile | Heterozygous | Polymorphism |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GTT | Val | ATT | Ile | G->A | Ts |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| EGF-like #04 | N-Term MMPs site | No | Yes |
| At the mRNA level | On restriction map |
| NA | New restriction site(s): none Lost restriction site(s): Mae II |
| Conservation (0-1) | SIFT (0-1) | UMD-predictor (0-100) |
|---|---|---|
| 0.83 | 1.00 (non pathogenous) | 35 (Polymorphism) |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| GER03HAN F0013 I03 | Proband | Male | NA | 15 years old | GERMANY |
| Phenotypic group | Disease |
| NA | Incomplete MFS |
| Symptom | Severity |
| C-Aortic insufficiency | severe |
| C-Asc. aortic dilatation | |
| no clinical data | |
| O-No implication | |
| S-Increased body length |
| Reference ID | PubMed ID | Reference |
| 107 | 12402346 | Rommel K, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M. "Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations". Hum Mutat. 2002 Nov;20(5):406-7. |